Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: Difference between revisions
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{{Infobox medical condition | |||
| name = Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |||
| synonyms = SANDO | |||
| field = [[Neurology]] | |||
| symptoms = [[Sensory ataxia]], [[dysarthria]], [[ophthalmoparesis]] | |||
| onset = Variable | |||
| duration = Progressive | |||
| causes = Mutations in the [[POLG]] gene | |||
| risks = Genetic predisposition | |||
| diagnosis = [[Genetic testing]], [[neurological examination]] | |||
| differential = [[Friedreich's ataxia]], [[Charcot-Marie-Tooth disease]] | |||
| treatment = Symptomatic management | |||
| prognosis = Variable, often progressive | |||
| frequency = Rare | |||
}} | |||
== '''Alternate names''' == | == '''Alternate names''' == | ||
* SANDO | * SANDO | ||
<youtube> | <youtube> | ||
title='''{{PAGENAME}}''' | title='''{{PAGENAME}}''' | ||
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height=600 | height=600 | ||
</youtube> | </youtube> | ||
== '''Definition''' == | == '''Definition''' == | ||
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterized by adult-onset severe sensory ataxic [[neuropathy]], [[dysarthria]] and chronic progressive external [[ophthalmoplegia]]. | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterized by adult-onset severe sensory ataxic [[neuropathy]], [[dysarthria]] and chronic progressive external [[ophthalmoplegia]]. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
The prevalence is unknown. | The prevalence is unknown. | ||
== '''Cause''' == | == '''Cause''' == | ||
The syndrome is associated with [[mitochondria]]l DNA [[mutations]] in either the '''[[POLG1]] or [[TWINKLE gene]]s.''' | The syndrome is associated with [[mitochondria]]l DNA [[mutations]] in either the '''[[POLG1]] or [[TWINKLE gene]]s.''' | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
[[Autosomal recessive]] and [[dominant]] inheritance, as well as [[sporadic]] occurrence, have been suggested. | [[Autosomal recessive]] and [[dominant]] inheritance, as well as [[sporadic]] occurrence, have been suggested. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Other common features include progressive [[gait]] unsteadiness, absent deep [[tendon]] reflexes, the presence of [[Rhomberg sign]], a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle [[biopsy]]. | Other common features include progressive [[gait]] unsteadiness, absent deep [[tendon]] reflexes, the presence of [[Rhomberg sign]], a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle [[biopsy]]. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
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* Upgaze [[palsy]] | * Upgaze [[palsy]] | ||
* Vestibular dysfunction | * Vestibular dysfunction | ||
5%-29% of people have these symptoms | 5%-29% of people have these symptoms | ||
* [[Areflexia]](Absent tendon reflexes) | * [[Areflexia]](Absent tendon reflexes) | ||
| Line 62: | Line 70: | ||
* [[Migraine]] (Intermittent migraine headaches) | * [[Migraine]] (Intermittent migraine headaches) | ||
* [[Seizure]] | * [[Seizure]] | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
Establishing the diagnosis of a POLG-related disorder relies on clinical findings and identification of biallelic POLG pathogenic variants for all phenotypes except adPEO, for which identification of a heterozygous POLG pathogenic variant is diagnostic.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. | Establishing the diagnosis of a POLG-related disorder relies on clinical findings and identification of biallelic POLG pathogenic variants for all phenotypes except adPEO, for which identification of a heterozygous POLG pathogenic variant is diagnostic.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26471/ | ||
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK26471//]. | </ref>[https://www.ncbi.nlm.nih.gov/books/NBK26471//]. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
Clinical management is largely supportive and involves conventional approaches for associated complications including [[Occupational Therapy (OT)|occupational]], [[Physical Therapy|physical]], and [[speech therapy]]; nutritional interventions; and standard respiratory support, treatment for liver failure and disorders of arousal and sleep, and management of [[seizures]] and movement disorders.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. | Clinical management is largely supportive and involves conventional approaches for associated complications including [[Occupational Therapy (OT)|occupational]], [[Physical Therapy|physical]], and [[speech therapy]]; nutritional interventions; and standard respiratory support, treatment for liver failure and disorders of arousal and sleep, and management of [[seizures]] and movement disorders.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26471/ | ||
</ref> | </ref> | ||
== '''References''' == | == '''References''' == | ||
<references /> | <references /> | ||
Latest revision as of 06:05, 4 April 2025
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
|---|---|
| Synonyms | SANDO |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Sensory ataxia, dysarthria, ophthalmoparesis |
| Complications | N/A |
| Onset | Variable |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the POLG gene |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, neurological examination |
| Differential diagnosis | Friedreich's ataxia, Charcot-Marie-Tooth disease |
| Prevention | N/A |
| Treatment | Symptomatic management |
| Medication | N/A |
| Prognosis | Variable, often progressive |
| Frequency | Rare |
| Deaths | N/A |
Alternate names[edit]
- SANDO
Definition[edit]
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
Epidemiology[edit]
The prevalence is unknown.
Cause[edit]
The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.
Inheritance[edit]
Autosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested.
Signs and symptoms[edit]
Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Rhomberg sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms
- Abnormal morphology of the cerebellar cortex
- Abnormal thalamic MRI signal intensity
- Atrophy/Degeneration involving the spinal cord
- Bilateral sensorineural hearing impairment
- Dysarthria(Difficulty articulating speech)
- Gait ataxia(Inability to coordinate movements when walking)
- Hyporeflexia(Decreased reflex response)
- Impaired distal proprioception
- Impaired vibratory sensation(Decreased vibration sense)
- Increased serum lactate
- Increased variability in muscle fiber diameter
- Myoclonus
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Ophthalmoparesis(Weakness of muscles controlling eye movement)
- Positive Rhomberg sign
- Proximal muscle weakness(Weakness in muscles of upper arms and upper legs)
- Ptosis(Drooping upper eyelid)
- Ragged-red muscle fibers
- Sensory ataxic neuropathy
- Upgaze palsy
- Vestibular dysfunction
5%-29% of people have these symptoms
- Areflexia(Absent tendon reflexes)
- Cataract(Clouding of the lens of the eye)
- Depressivity(Depression)
- Dilated cardiomyopathy(Stretched and thinned heart muscle)
- [[Gastroparesis](Delayed gastric emptying)
- Intestinal pseudo-obstruction
- Memory impairment(Forgetfulness)
- Migraine (Intermittent migraine headaches)
- Seizure
Diagnosis[edit]
Establishing the diagnosis of a POLG-related disorder relies on clinical findings and identification of biallelic POLG pathogenic variants for all phenotypes except adPEO, for which identification of a heterozygous POLG pathogenic variant is diagnostic.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26471/ </ref>[1].
Treatment[edit]
Clinical management is largely supportive and involves conventional approaches for associated complications including occupational, physical, and speech therapy; nutritional interventions; and standard respiratory support, treatment for liver failure and disorders of arousal and sleep, and management of seizures and movement disorders.<ref>Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26471/ </ref>
References[edit]
<references />
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NIH genetic and rare disease info[edit]
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
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Rare diseases - Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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| Mitochondrial diseases | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
see also mitochondrial proteins
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| Inborn error of purine–pyrimidine metabolism (E79, 277.2) | ||||||||||||||||||
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